A80V (p.Ala80Val) variant of ETV1 (ETS translocation variant 1)
A80V (p.Ala80Val) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A80V (p.Ala80Val) variant details
- p.Ala80Val
- TOPMed rs1247959899
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.34
- Population evidence available
- Structural context available